Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease in an Icelandic cohort and a patient from Saudi Arabia, by destabilising the dimerisation of gp91^phox with p22^phox, manifesting as phenotypic chronic granulomatous disease (CGD). Haematopoietic stem cell transplantation is the treatment of choice in CGD, though experience of transplantation in this subtype of CGD is limited to a brief description in one patient.

We provide clinical and transplant data for two Icelandic brothers with CGD due to homozygous p.Tyr2Ter mutations in CYBC1, demonstrating maintained cure of the immune defect 11 years post-transplant in one brother, and death in the peri-transplant period for the other.

细胞色素b -245 伴侣蛋白 1 (CYBC1) 中的纯合突变最近被描述为通过破坏 gp91 ^phox与 p22 ^phox的二聚化，表现为表型慢性肉芽肿，导致冰岛队列和沙特阿拉伯患者的复发性感染和炎症性疾病疾病（CGD）。造血干细胞移植是 CGD 的首选治疗方法，尽管在这种 CGD 亚型中的移植经验仅限于对一名患者的简要描述。

我们提供了两名冰岛兄弟因 CYBC1 纯合 p.Tyr2Ter 突变而患有 CGD 的临床和移植数据，证明其中一个兄弟在移植后 11 年的免疫缺陷得到持续治愈，而另一个则在移植期间死亡。